Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11012732
rs11012732
MLLT10
5 0.882 0.080 10 21541175 intron variant A/G snv 0.31 0.810 1.000 1 2011 2011
dbSNP: rs2686876
rs2686876 		3 0.882 0.080 11 258909 intergenic variant T/A;C snv 0.710 1.000 1 2018 2018
dbSNP: rs121434259
rs121434259
NF2
2 0.925 0.160 22 29636805 stop gained C/T snv 0.700 0
dbSNP: rs1568234664
rs1568234664
DNMT1
1 1.000 0.080 19 10154774 splice acceptor variant C/A snv 0.700 0
dbSNP: rs587776563
rs587776563
NF2
1 1.000 0.080 22 29668440 frameshift variant A/- delins 0.700 0
dbSNP: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.020 1.000 2 2009 2016
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.020 0.500 2 2013 2020
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2006 2013
dbSNP: rs12770228
rs12770228
MIR1915HG
4 0.882 0.080 10 21494705 non coding transcript exon variant G/A snv 0.24 0.020 1.000 2 2015 2017
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.020 1.000 2 2017 2017
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.020 1.000 2 2017 2017
dbSNP: rs4968451
rs4968451
BRIP1
13 0.732 0.160 17 61849946 intron variant A/C snv 0.15 0.020 1.000 2 2008 2018
dbSNP: rs1035938
rs1035938
BICRA
8 0.776 0.120 19 47680514 missense variant C/G;T snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2006 2006
dbSNP: rs10936599
rs10936599
MYNN
32 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 0.010 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2016 2016
dbSNP: rs121918347
rs121918347
SMO
4 0.851 0.080 7 129210500 missense variant G/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1243180
rs1243180
MLLT10
7 0.790 0.160 10 21626690 intron variant T/A snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs1329443726
rs1329443726
CDKN2A
1 1.000 0.080 9 21971097 frameshift variant C/- delins 0.010 1.000 1 2001 2001
dbSNP: rs1475218156
rs1475218156
CDKN2B ; CDKN2B-AS1
1 1.000 0.080 9 22006096 missense variant C/G;T snv 4.2E-06; 8.4E-06 0.010 1.000 1 2001 2001
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
13 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2013 2013
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs1800067
rs1800067
ERCC4
17 0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02 0.010 1.000 1 2010 2010